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Standard

Inguinal hernia

near EBF2 · rs10095777

Strength of the evidence

1 / 4

Its strongest genetic-study result is p = 10−18, with 1 associations in the GWAS Catalog.

How this is scored

4: ClinVar disease-causing, reviewed by an expert panel or a guideline (3–4 stars). 3: ClinVar, several labs agreeing (2 stars), or a genetic study at p ≤ 10−50. 2: ClinVar from one lab (1 star), or p ≤ 10−20. 1: ClinVar submitted without criteria (0 stars), or genome-wide significance (p ≤ 5×10−8). The higher of the two counts. It says how solid the evidence is, not whether it matters for a particular person.

What the study found

Who was studied 13,047 European ancestry cases, 262,499 European ancestry controls; replicated in 4,450 European ancestry cases, 87,398 European ancestry controls.

The effect The reported allele is C; the catalogue records no effect size ; p = 3 × 10−18.

How common The C allele had a frequency of about 20% in the people studied.

Where it sits Chromosome 8, band 8p21.2 — between genes, 95.4 kb from EBF2.

How common each version is

CT
Korean KRGDB
C 20.1% · T 79.9%
Korean Korea4K
C 20.1% · T 79.9%
Korean Korea1K
C 21.0% · T 79.0%
Japanese ToMMo
C 30.7% · T 69.3%
Vietnamese
C 18.1% · T 81.9%
World gnomAD
C 20.7% · T 79.3%
World 1000 Genomes
C 23.5% · T 76.5%
World TOPMed
C 20.6% · T 79.4%

The share of all copies of this position that are each version. Source: the population studies published in dbSNP (US NCBI); each row names its study.

What each result means

C/C Two copies of the version the research linked to Inguinal hernia. That is the strongest link of the three results. A link in a study is not a diagnosis.
C/T One copy of the version the research linked to Inguinal hernia. That is a smaller link than two copies.
T/T No copy of the version the research linked to Inguinal hernia. This is the starting point the study compared everyone against.
Source

Quoting this page

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Inguinal hernia (rs10095777). MyGeneLog™. https://www.mygenelog.com/variants/rs10095777

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